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TBC1D19 Gene

protein-coding   GIFtS: 46
GCID: GC04P026585

TBC1 Domain Family, Member 19

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
TBC1 Domain Family, Member 191 2
TBC1 Domain Family Member 192

External Ids:    HGNC: 256241   Entrez Gene: 552962   Ensembl: ENSG000001096807   UniProtKB: Q8N5T23   

Export aliases for TBC1D19 gene to outside databases

Previous GC identifers: GC04P026262 GC04P025923


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TBC1D19 Gene:
TBC1D19 (TBC1 domain family, member 19) is a protein-coding gene. GO annotations related to this gene include Rab GTPase activator activity.

UniProtKB/Swiss-Prot: TBC19_HUMAN, Q8N5T2
Function: May act as a GTPase-activating protein for Rab family protein(s)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_006316.17  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TBC1D19 gene promoter:
         POU2F1   POU2F1b   POU2F1a   FOXO4   POU2F1c   HNF-3beta   Ik-3   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBC1D19 promoter sequence
   Search Chromatin IP Primers for TBC1D19

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TBC1D19


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p15.2   Ensembl cytogenetic band:  4p15.2   HGNC cytogenetic band: 4p15.2

TBC1D19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D19 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P026585:  view genomic region     (about GC identifiers)

Start:
26,578,059 bp from pter      End:
26,756,973 bp from pter
Size:
178,915 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TBC19_HUMAN, Q8N5T2 (See protein sequence)
Recommended Name: TBC1 domain family member 19  
Size: 526 amino acids; 60208 Da
Secondary accessions: Q9NUX1

Explore the universe of human proteins at neXtProt for TBC1D19: NX_Q8N5T2

Explore proteomics data for TBC1D19 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys234
  • Modification sites at PhosphoSitePlus

  • See TBC1D19 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060787.2  
    ENSEMBL proteins: 
     ENSP00000423116   ENSP00000427033   ENSP00000264866   ENSP00000423097   ENSP00000425569  
     ENSP00000425176  

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    Cloud-Clone Corp. Proteins for TBC1D19

     
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    antibodies-online peptides for TBC1D19

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    antibodies-online antibodies for TBC1D19 (5 products) 

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    antibodies-online kits for TBC1D19 (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR000195 Rab-GTPase-TBC_dom

    Graphical View of Domain Structure for InterPro Entry Q8N5T2

    ProtoNet protein and cluster: Q8N5T2

    1 Blocks protein domain: IPB000195 RabGAP/TBC domain

    UniProtKB/Swiss-Prot: TBC19_HUMAN, Q8N5T2
    Similarity: Contains 1 Rab-GAP TBC domain


    Find genes that share domains with TBC1D19           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBC19_HUMAN, Q8N5T2
    Function: May act as a GTPase-activating protein for Rab family protein(s)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005097Rab GTPase activator activity IEA--
         
    Find genes that share ontologies with TBC1D19           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TBC1D19
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    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate TBC1D19:
    hsa-miR-153 hsa-miR-433 hsa-miR-448 hsa-miR-576-5p hsa-miR-491-3p
    SwitchGear 3'UTR luciferase reporter plasmidTBC1D19 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: TBC1D19 (NM_018317)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBC1D19
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBC1D19

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D19


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    endoplasmic reticulum1
    golgi apparatus1
    mitochondrion1
    nucleus1
    peroxisome1

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TBC1D19
    Interactions:

        Search GeneGlobe Interaction Network for TBC1D19

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for TBC1D19 (Q8N5T23 ENSP000002648664) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IGHA1P018763, ENSP000003749894I2D: score=1 STRING: ENSP00000374989
    UBCENSP000003448184STRING: ENSP00000344818
    PPP1CCENSP000003350844STRING: ENSP00000335084
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032313regulation of Rab GTPase activity ----

    Find genes that share ontologies with TBC1D19           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TBC1D19 (TBC19)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TBC1D19 gene: 
    NM_018317.2  

    Unigene Cluster for TBC1D19:

    TBC1 domain family, member 19
    Hs.479403  [show with all ESTs]
    Unigene Representative Sequence: NM_018317
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000513455 ENST00000512840 ENST00000504442 ENST00000264866(uc003gsf.4 uc011bxu.2)
    ENST00000502873(uc010iew.3) ENST00000505206 ENST00000511789 ENST00000515568
    ENST00000513596
    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate TBC1D19:
    hsa-miR-153 hsa-miR-433 hsa-miR-448 hsa-miR-576-5p hsa-miR-491-3p
    SwitchGear 3'UTR luciferase reporter plasmidTBC1D19 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TBC1D19
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat TBC1D19
      QuantiFast Probe-based Assays in human, mouse, rat TBC1D19

    Additional mRNA sequence: 

    AB449905.1 AF075043.1 AK001944.1 AK225395.1 AK289631.1 AK310795.1 BC031642.1 

    6 DOTS entries:

    DT.311645  DT.91989206  DT.100752249  DT.95370464  DT.102823800  DT.99998757 

    Selected AceView cDNA sequences (see all 44):

    AI928457 AF075043 BX282662 CK300400 BQ189550 AU136864 H45211 BI553462 
    BI759807 BU569326 H20994 AL600798 BC031642 AK001944 BU568487 AL699077 
    BX100025 BX460217 BX406026 BI819586 BI914633 NM_018317 AA156767 BG706604 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TBC1D19 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCCCTCTTC
    TBC1D19 Expression
    About this image


    TBC1D19 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Blood (Cardiovascular System)
             Double Positive Thymocytes Thymus
    TBC1D19 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TBC1D19 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.479403
        Custom PCR Arrays for TBC1D19
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D19

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for TBC1D19 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbc1d191 , 5 TBC1 domain family, member 191, 5 91.7(n)1
    97.34(a)1
      5 (29.65 cM)5
    672491  NM_144517.41  NP_653100.11 
     538096275 
    chicken
    (Gallus gallus)
    Aves TBC1D191 TBC1 domain family, member 19 83.84(n)
    91.44(a)
      422800  XM_420750.4  XP_420750.3 
    lizard
    (Anolis carolinensis)
    Reptilia TBC1D196
    TBC1 domain family, member 19
    87(a)
    1 ↔ 1
    GL343348.1(693480-778096)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.342452 Xenopus laevis transcribed sequences 80.47(n)    AW638494.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc637952 hypothetical protein MGC63795 73.86(n)   393463  BC055245.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG77421 CG7742 49.36(n)
    42.36(a)
      33750  NM_135069.3  NP_608913.1 


    ENSEMBL Gene Tree for TBC1D19 (if available)
    TreeFam Gene Tree for TBC1D19 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TBC1D19 (see all 2872)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1154763961,2
    C,F--25921666(+) TTTTTT/CGCTTG 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1466218931,2
    --25921742(+) TTTAAC/TAAAAT 1 -- us2k10--------
    rs755489721,2
    C,F--25921951(+) AGTTGG/CATATT 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1846800001,2
    --25922010(+) TCATGC/TAATTC 1 -- us2k10--------
    rs1492240281,2
    --25922224(+) TCTGCC/TTCTTC 1 -- us2k10--------
    rs1433232151,2
    --25922357(+) TGAGAG/TAATGT 1 -- us2k10--------
    rs1903086951,2
    --25922403(+) TAATTG/TCCTTT 1 -- us2k10--------
    rs1513091191,2
    --25922433(+) TGGCTG/TCCTCT 1 -- us2k10--------
    rs1811861821,2
    --25922610(+) CAGAAC/TGTAGT 1 -- us2k10--------
    rs1848894961,2
    --25922645(+) TCTTGG/TACTTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TBC1D19 (26578059 - 26756973 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for TBC1D19:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678106CNV Deletion23128226
    nsv878768CNV Loss21882294
    nsv470021CNV Loss18288195
    nsv524115CNV Loss19592680
    nsv522423CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TBC1D19
    DNA2.0 Custom Variant and Variant Library Synthesis for TBC1D19

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TBC1D19 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TBC1D19)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    4. Identification of the human testis protein phosphatase 1 interactome. (PubMed id 21382349)1 Fardilha M....da Cruz e Silva E.F. (Biochem. Pharmacol. 2011)
    5. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PubMed id 19077034)1 Ishibashi K.... Fukuda M. (Genes Cells 2009)
    6. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    7. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (Gene 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55296 HGNC: 25624 AceView: FLJ11082 Ensembl:ENSG00000109680 euGenes: HUgn55296
    ECgene: TBC1D19 H-InvDB: TBC1D19

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TBC1D19 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TBC1D19 gene:
    Search GeneIP for patents involving TBC1D19

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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      eBioscience FlowRNA Probe Sets
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     antibodies-online antibodies for TBC1D19 (5 products)
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